Turner syndrome mosaicism: Challenges in identification and management in primary care

Bryant, Pamela H.; Jacoby, Delwin; Bunch, Miriam; Speck, Patricia M.

doi:10.1097/jxx.0000000000000643

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2023

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“…When the syndrome presents as a mosaic karyotype, clinical presentations are often uncommon, which can be difficult to be recognized for primary care providers. Turner syndrome is typically diagnosed at an average age of 5.9 years, while the age at diagnosis of Turner syndrome mosaicism is 7.5 years [ 3 ].…”

Section: Introductionmentioning

confidence: 99%

A Case Report of Turner Syndrome Diagnosed at Age 61 Years

Jin,

Lee,

Kim

2023

J Menopausal Med

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Here, we describe a case of Turner syndrome first diagnosed at 61 years of age. The patient’s chief complaint was general edema. A cardiologist was consulted, who performed echocardiogram and coronary heart computed tomography. Chromosomal analysis yielded inconclusive results for Turner syndrome. The patient’s karyotype was 45,X[17]/46,X,psu idic(Y)(q11.23), and she was referred to a gynecologist a time span. The patient was nulliparous with no history of sexual contact. We performed a prophylactic gonadectomy, but no malignancy was detected pathologically.

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Section: Introductionmentioning

confidence: 99%